| Variant ID | 11421 |
|---|---|
| Entrez Gene ID | 2887 |
| Gene | GRB10 (GeneCards) |
| Location | hg19 7:50799166-50799166
hg38 7:50731469-50731469 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.50799166 C>T (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0087 |
| CADD Raw score (version 1.3) | 0.026447 (Deleterious) |
| FATHMM raw prediction score | 0.17325 (Tolerated) |
| Deleterious probability by DeFine | 0.4878 (Neutral) |
| Entrez Gene ID | 2887 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GRB10 (GeneCards) |
| Number of variants in GRB10 in this database | 5 (view all the variants) |
| Full name | growth factor receptor bound protein 10 |
| Band | 7p12.1 |
| Other IDs | Vega: OTTHUMG00000150622 OMIM: 601523 HGNC: HGNC:4564 Ensembl: ENSG00000106070 |
| Other names | RSS, IRBP, MEG1, GRB-IR, Grb-10 |
| Summary | The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with insulin receptors and insulin-like growth-factor receptors. Overexpression of some isoforms of the encoded protein inhibits tyrosine kinase activity and results in growth suppression. This gene is imprinted in a highly isoform- and tissue-specific manner, with expression observed from the paternal allele in the brain, and from the maternal allele in the placental trophoblasts. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2010] |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |